ClinVar

NM_201384.3(PLEC):c.13458C>T (p.Thr4486=)

Gene:

PLEC:plectin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

8q24.3

Genomic location:

• Chr8: 143916363 (on Assembly GRCh38)
• Chr8: 144990531 (on Assembly GRCh37)

Preferred name:

NM_201384.3(PLEC):c.13458C>T (p.Thr4486=)

HGVS:

• NC_000008.11:g.143916363G>A
• NG_012492.1:g.65383C>T
• NM_000445.5:c.13539C>T
• NM_201378.4:c.13416C>T
• NM_201379.3:c.13392C>T
• NM_201380.4:c.13869C>T
• NM_201381.3:c.13362C>T
• NM_201382.4:c.13458C>T
• NM_201383.3:c.13470C>T
• NM_201384.3:c.13458C>TMANE SELECT
• NP_000436.2:p.Thr4513=
• NP_958780.1:p.Thr4472=
• NP_958781.1:p.Thr4464=
• NP_958782.1:p.Thr4623=
• NP_958783.1:p.Thr4454=
• NP_958784.1:p.Thr4486=
• NP_958785.1:p.Thr4490=
• NP_958786.1:p.Thr4486=
• NC_000008.10:g.144990531G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs782560017

NCBI 1000 Genomes Browser:

rs782560017

Molecular consequence:

• NM_000445.5:c.13539C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_201378.4:c.13416C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_201379.3:c.13392C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_201380.4:c.13869C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_201381.3:c.13362C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_201382.4:c.13458C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_201383.3:c.13470C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_201384.3:c.13458C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

2